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NIST has recently convened the Genome in a Bottle Consortium (March 21, San Diego, CA) to develop the reference materials, reference methods, and reference data needed to support confidence in human whole genome variant calls. The work of this consortium will enable translation of sequencing to clinical applications through a community standards development effort.
The consortium will host a morning session to present its work plan, progress at NIST in developing whole-genome reference materials, and updates from each of four working groups: (1) Reference Material (RM) Selection and Design; (2) Measurements for Reference Material Characterization; (3) Bioinformatics, Data Integration and Data Representation; (4) Performance Metrics and Figures of Merit.
For more information, visit http://bit.ly/WvJbb7
The consortium will host a morning session to present its work plan, progress at NIST in developing whole-genome reference materials, and updates from each of four working groups: (1) Reference Material (RM) Selection and Design; (2) Measurements for Reference Material Characterization; (3) Bioinformatics, Data Integration and Data Representation; (4) Performance Metrics and Figures of Merit.
For more information, visit http://bit.ly/WvJbb7